The role of cytogenetics and molecular diagnostics in the diagnosis of soft-tissue tumors

Soft-tissue sarcomas are rare, comprising 100 benign and malignant soft-tissue tumor entities defined. Not infrequently, these neoplasms exhibit overlapping clinicopathologic features posing significant challenges in rendering a definitive diagnosis and optimal therapy. Advances in cytogenetic and m...

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Bibliographic Details
Published in:Modern pathology 2014-01, Vol.27 (Suppl 1), p.S80-S97
Main Author: Bridge, Julia A
Format: Article
Language:English
Subjects:
631/1647/1407/1405
631/1647/1513
692/699/67/1798
692/700/139
Biomarkers, Tumor - genetics
Chromosomes
Classification
Clinical medicine
Cytogenetic Analysis
Cytogenetics
Ewings sarcoma
FISH
Gene amplification
Gene Expression Regulation, Neoplastic
Genetic Predisposition to Disease
Humans
Kinases
Laboratory Medicine
long-course-article
Medicine
Medicine & Public Health
Molecular Diagnostic Techniques
molecular pathology
Mutation
Pathology
Phenotype
Predictive Value of Tests
Prognosis
sarcoma
Soft Tissue Neoplasms - genetics
Soft Tissue Neoplasms - pathology
Soft Tissue Neoplasms - therapy
Tumors
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Summary:Soft-tissue sarcomas are rare, comprising 100 benign and malignant soft-tissue tumor entities defined. Not infrequently, these neoplasms exhibit overlapping clinicopathologic features posing significant challenges in rendering a definitive diagnosis and optimal therapy. Advances in cytogenetic and molecular science have led to the discovery of genetic events in soft-tissue tumors that have not only enriched our understanding of the underlying biology of these neoplasms but have also proven to be powerful diagnostic adjuncts and/or indicators of molecular targeted therapy. In particular, many soft-tissue tumors are characterized by recurrent chromosomal rearrangements that produce specific gene fusions. For pathologists, identification of these fusions as well as other characteristic mutational alterations aids in precise subclassification. This review will address known recurrent or tumor-specific genetic events in soft-tissue tumors and discuss the molecular approaches commonly used in clinical practice to identify them. Emphasis is placed on the role of molecular pathology in the management of soft-tissue tumors. Familiarity with these genetic events provides important ancillary testing for pathologists to include in their diagnostic armamentarium.
ISSN:0893-3952
1530-0285
DOI:10.1038/modpathol.2013.179